VEP annotation of Manta BND
I am using VEP to annotate SVs from Manta vcf files. For the translocations (MantaBND) only the first reported chr region gets a gene annoation. Is there a way to get gene annotations for both chromosomes involved in the translocation?
annnotation
vep
0 answers
No answers yet.
Log in to answer this question.
More posts like this
-
Manta SV (specially Translocation)
written by Nai •Hi Everyone! I have manta generated and VEP annotated vcf file for tumor vs normal. In my data there are lot of translocations in comparison …
-
Using VEP annotation output as the input for a second VEP annotation
written by Arton •I need to perform two rounds of annotations using VEP. I cannot merge the steps into one for specific reasons. The first annotation runs successfully. …
-
Locally annotating SNP IDs and Gene names of called variants
written by entropyI have GWAS results after variant calling. The VCF file only had CHR (1:22) and POS (12345678 etc) information but the ID column has all …
-
Manta: What does all this mean
written by josh.mannheimer •Hi, I am trying to understand these Manta somatic variant VCFs that I have annotated with VEP. chr10 11974892 MantaBND:6118:0:1:0:0:0:0 G ]chr1:41850074]G . PASS SVTYPE=BND;MATEID=MantaBND:6118:0:1:0:0:0:1;CIPOS=0,2;HOMLEN=2;HOMSEQ=AG;SOMATIC;SOMATICSCORE=54;BND_DEPTH=62;MATE_BND_DEPTH=0;CHR2=chr1;ENDPOSSV=41850074;SVLEN=0;RO=-+;TRA;LENSV=-1;RGENUPS=ENSCAFG00000045430___None,-9947,+;RGENISEC=ENSCAFG00000000435___BEST3,0,-;RGENDNS=ENSCAFG00000000436___RAB3IP,59491,+;LGENUPS=ENSCAFG00000000405___PLEKHG1,-146330,+;LGENISEC=ENSCAFG00000000413___MTHFD1L,0,+;LGENDNS=ENSCAFG00000000419___AKAP12,173336,+;CSQ=]chr1:41850074]G|feature_truncation|HIGH|MTHFD1L|MTHFD1L_3|Transcript|XM_038526323.1|mRNA||||||||||||1||||Canis_familiaris.UU_Cfam_GSD_1.0.gtf.gz|,]chr1:41850074]G|feature_truncation&intron_variant|HIGH|BEST3|BEST3_2|Transcript|XM_038549568.1|mRNA||4/5||||||||||-1||||Canis_familiaris.UU_Cfam_GSD_1.0.gtf.gz| …
-
Vep : MNP phased genotype
written by quentin54520 •Hello all, I would like to know what is the best way to annotate a vcf taking into account the mnp. I specify that it …
-
Editing Manta structural VCF file
written by parvathi.sudha •Hi, Is there a way for filtering/removing the structural variants identified in ChrUn and other random contigs or in non-main chromosomes? I am using hg38 …
-
an efficient way to annotate mutations from vcf files using multiple annotation files
written by laitwe do whole exome sequencing at our lab since years, and we already have an established bioinformatics pipeline. Now we are planning to modify/renew our …
-
How to annotate structural variants in VCF with esv/nsv identifiers
written by danilovkiri •Hi! I'm struggling with finding a way to annotate a manta structural variants VCF output with SV regions identifiers from DGV/dbVAR (**esv/nsv**). Direct annotation based …
-
Difference between Cosmic Annotation from VEP and directly from COSMIC VCF.
written by always_learningHi All, I am trying to annotate few VCF files from VEP with Cosmic ID's and same VCF is being annotated using Cosmic VCF's. For …
-
How to annotate a VCF with Entrez Gene IDs
written by Ward WeistraDear Biostars, I would like to annotate my VCF with Entrez Gene IDs. I have found ways to add the HGNC Gene Symbol and the …
duplicate the variant to create another one with the 2nd position.
What format are your translocations inputted in?
The structure of the VCF is:
chr1 84799235 MantaBND:6124:1:2:0:0:0:0 A A]chr14:85914438] . PASS SVTYPE=BND;MATEID=MantaBND:6124:1:2:0:0:0:1;IMPRECISE;CIPOS=-92,92;SOMATIC;SOMATICSCORE=34;BND_DEPTH=27;MATE_BND_DEPTH=31 PR
@Emily_Ensembl the breakpoint is defined in the ALT column.
A]chr14:85914438]Yes, I can see that.
Sorry, I see now that Manta actually reports breakend translocations on double rows so 'chr14 85914438' comes further down a second row, which means that it gets a gene annotatation by VEP. Sorry, my bad...
no problem, please, close your question.